title: Cytogenetic evaluation of patients with clinical spectrum of Turner syndrome.
abstract: OBJECTIVE
  The objective of this study was to correlate the genotype, of female patients, withshort stature and primary amenorrhea.
  
  
  METHODS
  One hundred and forty-six subjects were recruited during 2005-2012. Microscopic and automated karyotyping analyses were done by using chromosomes isolated from the lymphocytes using Giemsa banding (GTG) to identify chromosome abnormalities.
  
  
  RESULTS
  A total of 146 clinically suspected Turner syndrome (TS) subjects were recruited for the study, of which, 61 patients were identified to have chromosome abnormalities. The chromosomal abnormalities detected were as follows: Monosomy X (n = 19, 13.01%), triple X syndrome (n = 4, 2.7%), mosaic TS (n = 12, 8.21%), XY gonadal dysgenesis (n = 13, 8.9%), and structural abnormalities including X chromosome (n = 15, 10.27%) and one patient each with autosomal changes involving 9qh inversion and translocation of chromosomes 12 and 14.
  
  
  CONCLUSIONS
  Karyotype abnormalities accounting for 46% in this study emphasize the need for karyotype testing in cases of short stature with primary amenorrhea.
authors.affiliation: Department of Biotechnology, School of Life Sciences, Manipal, Karnataka, India.
authors.forename: Rajasekhar
authors.initials: R
authors.lastname: Moka
authors.forename: Kodandapani
authors.initials: K
authors.lastname: Sreelakshmi
authors.forename: Puthiya Mundyat
authors.initials: PM
authors.lastname: Gopinath
authors.forename: Kapettu
authors.initials: K
authors.lastname: Satyamoorthy
keywords: Gonadal dysgenesis and monosomy X; primary amenorrhea; short stature